Orpha Number: 445018
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names | Learn More: HPO ID |
---|---|---|
1%-4% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Asthma | 0002099 | |
Autoimmune |
0001890 | |
Autoimmune |
0001973 | |
B lymphocytopenia |
Low B cell count
|
0010976 |
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
Chronic atrophic gastritis | 0002582 | |
Chronic diarrhea | 0002028 | |
Chronic lung disease | 0006528 | |
Chronic neutropenia | 0410252 | |
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
|
0100759 |
Colitis | 0002583 | |
Conjunctivitis |
Pink eye
|
0000509 |
Decreased circulating IgA level | 0002720 | |
Decreased circulating IgG level | 0004315 | |
Decreased circulating total IgM | 0002850 | |
Decreased proportion of class-switched memory B |
0030388 | |
Decreased specific |
0032140 | |
Erythema nodosum | 0012219 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Generalized lymphadenopathy |
Generalized swelling of lymph nodes
Swollen lymph nodes affecting all regions of the body
[ more ]
|
0008940 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
Lymphoproliferative disorder | 0005523 | |
Pancytopenia |
Low blood cell count
|
0001876 |
Psoriasiform lesion | 0025526 | |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent pneumonia | 0006532 | |
Recurrent sinusitis | 0011108 | |
Sepsis |
Infection in blood stream
|
0100806 |
Splenomegaly |
Increased spleen size
|
0001744 |
Thyroiditis |
Thyroid gland inflammation
|
0100646 |
Type I |
Type 1 diabetes
Type I diabetes
[ more ]
|
0100651 |
Uveitis | 0000554 | |
Villous atrophy | 0011473 | |
Vitiligo |
Blotchy loss of skin color
|
0001045 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Decreased immune function
|
0002721 |
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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